Incidental Mutation 'R1478:Prss33'
ID 165664
Institutional Source Beutler Lab
Gene Symbol Prss33
Ensembl Gene ENSMUSG00000049620
Gene Name serine protease 33
Synonyms mT6, tryptase-6, Eos
MMRRC Submission 039531-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1478 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24052321-24055030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24054072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 45 (W45R)
Ref Sequence ENSEMBL: ENSMUSP00000059491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024926] [ENSMUST00000059906] [ENSMUST00000115444] [ENSMUST00000122936]
AlphaFold Q80WM7
Predicted Effect probably benign
Transcript: ENSMUST00000024926
SMART Domains Protein: ENSMUSP00000024926
Gene: ENSMUSG00000024114

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 52 289 2.48e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059906
AA Change: W45R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
AA Change: W45R

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Tryp_SPc 33 271 9.03e-91 SMART
Predicted Effect unknown
Transcript: ENSMUST00000115444
AA Change: V78A
SMART Domains Protein: ENSMUSP00000111104
Gene: ENSMUSG00000049620
AA Change: V78A

DomainStartEndE-ValueType
Tryp_SPc 15 253 4.5e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122936
SMART Domains Protein: ENSMUSP00000120141
Gene: ENSMUSG00000024114

DomainStartEndE-ValueType
Tryp_SPc 12 249 2.48e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164140
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,580,287 (GRCm39) I204N possibly damaging Het
Acaca A G 11: 84,263,453 (GRCm39) T2025A probably damaging Het
B4galt3 C T 1: 171,103,938 (GRCm39) R170C probably benign Het
BC028528 T C 3: 95,799,271 (GRCm39) probably null Het
Ccdc73 A T 2: 104,737,955 (GRCm39) Q17L possibly damaging Het
Ccdc73 A G 2: 104,745,012 (GRCm39) T50A possibly damaging Het
Ccdc83 T C 7: 89,908,677 (GRCm39) D19G probably damaging Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cct8l1 T C 5: 25,722,767 (GRCm39) V494A probably benign Het
Chd1 T C 17: 15,959,769 (GRCm39) F663L probably damaging Het
Chn2 A T 6: 54,270,065 (GRCm39) E319V probably damaging Het
Cnnm1 T C 19: 43,460,295 (GRCm39) V679A probably damaging Het
Cntn6 C T 6: 104,753,389 (GRCm39) T447I probably benign Het
Cyp3a11 G T 5: 145,795,581 (GRCm39) L457I probably benign Het
Dera T A 6: 137,807,193 (GRCm39) S214T possibly damaging Het
Dmtf1 A G 5: 9,171,404 (GRCm39) V501A possibly damaging Het
Dnpep A G 1: 75,292,671 (GRCm39) V114A probably damaging Het
Dscam C T 16: 96,592,110 (GRCm39) V722M probably benign Het
Dsp A G 13: 38,365,114 (GRCm39) N499S probably damaging Het
Ecd A T 14: 20,396,725 (GRCm39) Y53* probably null Het
Esyt3 T C 9: 99,200,119 (GRCm39) T692A probably benign Het
Fat1 T A 8: 45,478,659 (GRCm39) N2545K probably damaging Het
Fndc3a A G 14: 72,795,072 (GRCm39) probably null Het
Fscn3 A G 6: 28,430,567 (GRCm39) M246V probably benign Het
Gde1 G T 7: 118,291,007 (GRCm39) T106K probably benign Het
Gjc2 A G 11: 59,068,434 (GRCm39) I16T possibly damaging Het
Hacd4 A T 4: 88,341,260 (GRCm39) M168K probably damaging Het
Hmx3 A G 7: 131,145,826 (GRCm39) E178G probably damaging Het
Htt A G 5: 34,961,171 (GRCm39) Y266C probably damaging Het
Jkampl A T 6: 73,446,039 (GRCm39) L170Q probably damaging Het
Kif27 G T 13: 58,451,359 (GRCm39) R990S probably damaging Het
Krtap22-2 A T 16: 88,807,534 (GRCm39) Y21* probably null Het
Lrrc41 T A 4: 115,952,405 (GRCm39) L661* probably null Het
Lrrc63 T C 14: 75,363,424 (GRCm39) T236A probably benign Het
Mmp13 T C 9: 7,272,892 (GRCm39) L84P probably damaging Het
Myh8 T C 11: 67,183,551 (GRCm39) I754T probably benign Het
Neb A C 2: 52,065,619 (GRCm39) D5961E probably benign Het
Nlrx1 T C 9: 44,175,374 (GRCm39) H134R probably benign Het
Npepps A T 11: 97,117,673 (GRCm39) M542K probably benign Het
Nup160 C T 2: 90,509,743 (GRCm39) probably benign Het
Or3a1c T A 11: 74,045,963 (GRCm39) probably null Het
Or8g33 T A 9: 39,337,888 (GRCm39) T160S possibly damaging Het
Pikfyve T C 1: 65,302,136 (GRCm39) probably null Het
Ppp6r1 A T 7: 4,643,377 (GRCm39) probably null Het
Ptprf A T 4: 118,069,302 (GRCm39) Y980* probably null Het
Qrich1 T C 9: 108,436,531 (GRCm39) V743A probably benign Het
Rev3l G A 10: 39,659,329 (GRCm39) probably null Het
Samd9l A T 6: 3,376,369 (GRCm39) N297K probably benign Het
Sap130 A G 18: 31,813,527 (GRCm39) H528R possibly damaging Het
Slc9b2 T C 3: 135,031,863 (GRCm39) V241A probably benign Het
Snx14 A T 9: 88,276,581 (GRCm39) V577E probably benign Het
Srrm2 T C 17: 24,034,876 (GRCm39) S507P probably benign Het
Stat2 A G 10: 128,117,969 (GRCm39) probably null Het
Susd5 T C 9: 113,925,752 (GRCm39) F545S probably benign Het
Tafa2 T A 10: 123,429,401 (GRCm39) M5K possibly damaging Het
Tnnt2 A G 1: 135,775,764 (GRCm39) T107A probably benign Het
Trappc6b T A 12: 59,094,953 (GRCm39) I41F possibly damaging Het
Ttn T A 2: 76,682,417 (GRCm39) probably benign Het
Vmn1r88 A C 7: 12,911,878 (GRCm39) D78A probably damaging Het
Xpc C T 6: 91,485,510 (GRCm39) D122N possibly damaging Het
Xpo1 C T 11: 23,241,623 (GRCm39) A890V probably damaging Het
Zfp493 A G 13: 67,934,680 (GRCm39) H211R probably damaging Het
Zfp958 A T 8: 4,679,190 (GRCm39) H405L probably damaging Het
Other mutations in Prss33
AlleleSourceChrCoordTypePredicted EffectPPH Score
Scissorhands UTSW 17 24,053,676 (GRCm39) missense probably benign 0.00
R0506:Prss33 UTSW 17 24,054,079 (GRCm39) missense probably benign 0.00
R1201:Prss33 UTSW 17 24,054,084 (GRCm39) nonsense probably null
R1652:Prss33 UTSW 17 24,054,116 (GRCm39) missense probably benign 0.10
R1652:Prss33 UTSW 17 24,054,115 (GRCm39) missense probably benign 0.00
R1662:Prss33 UTSW 17 24,053,785 (GRCm39) splice site probably null
R1994:Prss33 UTSW 17 24,053,172 (GRCm39) missense probably damaging 0.99
R2151:Prss33 UTSW 17 24,053,817 (GRCm39) missense probably damaging 1.00
R2153:Prss33 UTSW 17 24,053,817 (GRCm39) missense probably damaging 1.00
R2154:Prss33 UTSW 17 24,053,817 (GRCm39) missense probably damaging 1.00
R5002:Prss33 UTSW 17 24,054,332 (GRCm39) unclassified probably benign
R6648:Prss33 UTSW 17 24,053,676 (GRCm39) missense probably benign 0.00
R6662:Prss33 UTSW 17 24,052,934 (GRCm39) missense probably damaging 0.99
R6801:Prss33 UTSW 17 24,053,813 (GRCm39) missense possibly damaging 0.88
R7726:Prss33 UTSW 17 24,053,203 (GRCm39) missense probably damaging 1.00
R8335:Prss33 UTSW 17 24,053,569 (GRCm39) critical splice donor site probably null
R8413:Prss33 UTSW 17 24,052,930 (GRCm39) missense probably damaging 1.00
R8678:Prss33 UTSW 17 24,053,723 (GRCm39) missense probably benign 0.11
R8775:Prss33 UTSW 17 24,052,885 (GRCm39) missense possibly damaging 0.65
R8775-TAIL:Prss33 UTSW 17 24,052,885 (GRCm39) missense possibly damaging 0.65
R9151:Prss33 UTSW 17 24,052,966 (GRCm39) missense probably benign 0.00
R9332:Prss33 UTSW 17 24,053,723 (GRCm39) missense probably damaging 0.99
R9624:Prss33 UTSW 17 24,054,656 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ACACTGTACTCTGACGGCCATACC -3'
(R):5'- CCTAATCTCATTGCTGACCCGGAC -3'

Sequencing Primer
(F):5'- CTGCTGACACTACCTGGAC -3'
(R):5'- GGACTCTGTTACCTGGCATC -3'
Posted On 2014-03-28